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Aliases for BAZ1B Gene

Aliases for BAZ1B Gene

  • Bromodomain Adjacent To Zinc Finger Domain 1B 2 3 5
  • Williams-Beuren Syndrome Chromosomal Region 10 Protein 3 4
  • Williams-Beuren Syndrome Chromosomal Region 9 Protein 3 4
  • Williams Syndrome Transcription Factor 3 4
  • Transcription Factor WSTF 2 3
  • EC 2.7.10.2 4 58
  • WBSCR10 3 4
  • WBSCR9 3 4
  • HWALp2 3 4
  • WSTF 3 4
  • Bromodomain Adjacent To Zinc Finger Domain Protein 1B 4
  • Williams-Beuren Syndrome Chromosome Region 10 2
  • Williams-Beuren Syndrome Chromosome Region 9 2
  • Tyrosine-Protein Kinase BAZ1B 3
  • WBSC10 4

External Ids for BAZ1B Gene

Previous HGNC Symbols for BAZ1B Gene

  • WBSCR9
  • WBSCR10

Previous GeneCards Identifiers for BAZ1B Gene

  • GC07M071495
  • GC07M072253
  • GC07M072266
  • GC07M072299
  • GC07M072492
  • GC07M072854
  • GC07M068737

Summaries for BAZ1B Gene

Entrez Gene Summary for BAZ1B Gene

  • This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]

GeneCards Summary for BAZ1B Gene

BAZ1B (Bromodomain Adjacent To Zinc Finger Domain 1B) is a Protein Coding gene. Diseases associated with BAZ1B include Williams-Beuren Syndrome and Chromosomal Deletion Syndrome. Among its related pathways are DNA Double Strand Break Response and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include protein tyrosine kinase activity and binding. An important paralog of this gene is BPTF.

UniProtKB/Swiss-Prot for BAZ1B Gene

  • Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator. Involved in DNA damage response by phosphorylating Tyr-142 of histone H2AX (H2AXY142ph). H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at Tyr-142, and is involved in the maintenance of chromatin structures during DNA replication processes. In the complex, it mediates the recruitment of the WICH complex to replication foci during DNA replication.

Gene Wiki entry for BAZ1B Gene

Additional gene information for BAZ1B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAZ1B Gene

Genomics for BAZ1B Gene

Regulatory Elements for BAZ1B Gene

Enhancers for BAZ1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H073890 1.5 FANTOM5 Ensembl ENCODE dbSUPER 65.1 -368.1 -368104 0 ZBTB21 ZNF140 ZNF697 ZNF664 ZNF791 ZNF354C RBAK ZNF433 ZNF202 ZNF680 NSUN5P2 STAG3L3 BAZ1B GTF2IRD2 METTL27 POM121B MIR590 GTF2IRD2P1 LOC101926943 TBL2
GH07H074451 1.7 FANTOM5 ENCODE dbSUPER 16.7 -932.1 -932107 6 PKNOX1 DMAP1 SLC30A9 ZNF766 FOS DEK SP3 SP5 MXD4 NFYC BAZ1B STAG3L1 GTF2IRD2 BUD23 GTF2IRD2B LAT2 GTF2IRD1 RNA5SP233 GC07M074488
GH07H073555 1.1 ENCODE 24.6 -34.7 -34692 3 HDGF PKNOX1 MLX ARNT ARID4B SIN3A ZBTB7B YY1 ZNF766 ZNF207 BAZ1B MLXIPL STAG3L3 TBL2 BCL7B ENSG00000232415 POM121 SBDSP1 POM121B NSUN5P2
GH07H073645 1.5 FANTOM5 Ensembl ENCODE 16.1 -124.6 -124615 3 MLX ARID4B YY1 SLC30A9 GLIS2 SP3 SP5 MXD4 NFYC REST NSUN5P2 STAG3L3 POM121 GTF2IRD2P1 METTL27 MIR590 BAZ1B VPS37D DNAJC30 BUD23
GH07H073736 2 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -218.4 -218427 7 HDGF FOXA2 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 METTL27 STAG3L3 POM121B ABHD11-AS1 POM121 NSUN5P2 MIR590 FKBP6 BUD23 SPDYE7P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BAZ1B on UCSC Golden Path with GeneCards custom track

Promoters for BAZ1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000213465 598 3001 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B

Genomic Location for BAZ1B Gene

Chromosome:
7
Start:
73,440,398 bp from pter
End:
73,522,298 bp from pter
Size:
81,901 bases
Orientation:
Minus strand

Genomic View for BAZ1B Gene

Genes around BAZ1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAZ1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAZ1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAZ1B Gene

Proteins for BAZ1B Gene

  • Protein details for BAZ1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UIG0-BAZ1B_HUMAN
    Recommended name:
    Tyrosine-protein kinase BAZ1B
    Protein Accession:
    Q9UIG0
    Secondary Accessions:
    • B9EGK3
    • D3DXE9
    • O95039
    • O95247
    • O95277
    • Q6P1K4
    • Q86UJ6

    Protein attributes for BAZ1B Gene

    Size:
    1483 amino acids
    Molecular mass:
    170903 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with MYO1C (By similarity). Interacts with CDT1. Interacts with SMARCA5/SNF2H; the interaction is direct and forms the WICH complex. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Interacts with VDR; in a ligand-dependent manner. Interacts with PCNA; the interaction is direct.
    SequenceCaution:
    • Sequence=AAC97879.1; Type=Frameshift; Positions=1031, 1042, 1422; Evidence={ECO:0000305}; Sequence=AAD04720.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH65029.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA89210.1; Type=Frameshift; Positions=1478; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BAZ1B Gene

    Alternative splice isoforms for BAZ1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BAZ1B Gene

Selected DME Specific Peptides for BAZ1B Gene

Q9UIG0:
  • PKFLPHKYDVKL
  • ALCHRILMTYSV
  • ERIWTCKSTGSSQLTHKEAW
  • APWVVEDELVKK
  • SELVRLCLR
  • AQTFSRMHVLLGMLDACIKWDMS

Post-translational modifications for BAZ1B Gene

  • Ubiquitination at posLast=297297, posLast=778778, and Lys1068
  • Modification sites at PhosphoSitePlus

Other Protein References for BAZ1B Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for BAZ1B Gene

Gene Families for BAZ1B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for BAZ1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UIG0

UniProtKB/Swiss-Prot:

BAZ1B_HUMAN :
  • The N-terminal part (1-345), including the WAC domain and the C motif, mediates the tyrosine-protein kinase activity.
  • Belongs to the WAL family. BAZ1B subfamily.
Domain:
  • The N-terminal part (1-345), including the WAC domain and the C motif, mediates the tyrosine-protein kinase activity.
  • The bromo domain mediates the specific interaction with acetylated histones.
Family:
  • Belongs to the WAL family. BAZ1B subfamily.
genes like me logo Genes that share domains with BAZ1B: view

Function for BAZ1B Gene

Molecular function for BAZ1B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot Function:
Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator. Involved in DNA damage response by phosphorylating Tyr-142 of histone H2AX (H2AXY142ph). H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at Tyr-142, and is involved in the maintenance of chromatin structures during DNA replication processes. In the complex, it mediates the recruitment of the WICH complex to replication foci during DNA replication.

Enzyme Numbers (IUBMB) for BAZ1B Gene

Phenotypes From GWAS Catalog for BAZ1B Gene

Gene Ontology (GO) - Molecular Function for BAZ1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA --
GO:0004713 protein tyrosine kinase activity IDA,IEA 19092802
GO:0004715 non-membrane spanning protein tyrosine kinase activity IEA --
GO:0005515 protein binding IPI 11980720
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with BAZ1B: view
genes like me logo Genes that share phenotypes with BAZ1B: view

Human Phenotype Ontology for BAZ1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BAZ1B Gene

MGI Knock Outs for BAZ1B:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BAZ1B
  • Applied Biological Materials Clones for BAZ1B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for BAZ1B Gene

Localization for BAZ1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAZ1B Gene

Nucleus. Note=Accumulates in pericentromeric heterochromatin during replication. Targeted to replication foci throughout S phase via its association with PCNA.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BAZ1B gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BAZ1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000793 condensed chromosome IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005721 pericentric heterochromatin IEA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with BAZ1B: view

Pathways & Interactions for BAZ1B Gene

genes like me logo Genes that share pathways with BAZ1B: view

SIGNOR curated interactions for BAZ1B Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for BAZ1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003007 heart morphogenesis ISS --
GO:0006302 double-strand break repair ISS --
GO:0006333 chromatin assembly or disassembly IEA --
GO:0006338 chromatin remodeling IEA --
GO:0006351 transcription, DNA-templated NAS 10662543
genes like me logo Genes that share ontologies with BAZ1B: view

Drugs & Compounds for BAZ1B Gene

(1) Drugs for BAZ1B Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with BAZ1B: view

Transcripts for BAZ1B Gene

Unigene Clusters for BAZ1B Gene

Bromodomain adjacent to zinc finger domain, 1B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BAZ1B
  • Applied Biological Materials Clones for BAZ1B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for BAZ1B Gene

No ASD Table

Relevant External Links for BAZ1B Gene

GeneLoc Exon Structure for
BAZ1B
ECgene alternative splicing isoforms for
BAZ1B

Expression for BAZ1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BAZ1B Gene

Protein differential expression in normal tissues from HIPED for BAZ1B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.6), Urine (12.6), and Seminal vesicle (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BAZ1B Gene



Protein tissue co-expression partners for BAZ1B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BAZ1B Gene:

BAZ1B

SOURCE GeneReport for Unigene cluster for BAZ1B Gene:

Hs.743372

mRNA Expression by UniProt/SwissProt for BAZ1B Gene:

Q9UIG0-BAZ1B_HUMAN
Tissue specificity: Ubiquitously expressed with high levels of expression in heart, brain, placenta, skeletal muscle and ovary.

Evidence on tissue expression from TISSUES for BAZ1B Gene

  • Liver(4.3)
  • Nervous system(2.4)
  • Blood(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BAZ1B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • rectum
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with BAZ1B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BAZ1B Gene

Orthologs for BAZ1B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BAZ1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BAZ1B 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia BAZ1B 33 34
  • 91.5 (n)
cow
(Bos Taurus)
Mammalia BAZ1B 33 34
  • 89.97 (n)
mouse
(Mus musculus)
Mammalia Baz1b 33 16 34
  • 87.01 (n)
oppossum
(Monodelphis domestica)
Mammalia BAZ1B 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Baz1b 33
  • 86.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BAZ1B 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves BAZ1B 33 34
  • 75.64 (n)
lizard
(Anolis carolinensis)
Reptilia BAZ1B 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia baz1b 33
  • 67.14 (n)
Str.6337 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398269 33
zebrafish
(Danio rerio)
Actinopterygii baz1b 33 34
  • 63.3 (n)
Dr.19594 33
worm
(Caenorhabditis elegans)
Secernentea pcaf-1 34
  • 13 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCN5 34
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 18 (a)
OneToOne
Species where no ortholog for BAZ1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BAZ1B Gene

ENSEMBL:
Gene Tree for BAZ1B (if available)
TreeFam:
Gene Tree for BAZ1B (if available)

Paralogs for BAZ1B Gene

Paralogs for BAZ1B Gene

genes like me logo Genes that share paralogs with BAZ1B: view

Variants for BAZ1B Gene

Sequence variations from dbSNP and Humsavar for BAZ1B Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000012249 -- 73,501,952(+) GTGGT(A/G)CAATC intron-variant
rs1000047770 -- 73,462,413(+) GTTAC(A/G)GGGTA intron-variant
rs1000048577 -- 73,501,684(+) CTTCA(A/C)ACACC intron-variant
rs1000117317 -- 73,461,062(+) CCTCC(A/G)CCTCC intron-variant
rs1000299739 -- 73,443,742(+) AGTTG(A/C)AGGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BAZ1B Gene

Variant ID Type Subtype PubMed ID
dgv6467n100 CNV gain 25217958
esv2677299 CNV deletion 23128226
esv2759537 CNV gain+loss 17122850
esv3613686 CNV loss 21293372
nsv1023520 CNV gain 25217958
nsv1076921 CNV deletion 25765185
nsv1137253 CNV deletion 24896259
nsv831027 CNV loss 17160897

Variation tolerance for BAZ1B Gene

Residual Variation Intolerance Score: 2.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.03; 37.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BAZ1B Gene

Human Gene Mutation Database (HGMD)
BAZ1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BAZ1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAZ1B Gene

Disorders for BAZ1B Gene

MalaCards: The human disease database

(2) MalaCards diseases for BAZ1B Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
chromosomal deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search BAZ1B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BAZ1B_HUMAN
  • Note=BAZ1B is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BAZ1B may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Relevant External Links for BAZ1B

Genetic Association Database (GAD)
BAZ1B
Human Genome Epidemiology (HuGE) Navigator
BAZ1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BAZ1B
genes like me logo Genes that share disorders with BAZ1B: view

No data available for Genatlas for BAZ1B Gene

Publications for BAZ1B Gene

  1. Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. (PMID: 9858827) Peoples RJ … Francke U (Cytogenetics and cell genetics 1998) 2 3 4 22 60
  2. A novel human gene, WSTF, is deleted in Williams syndrome. (PMID: 9828126) Lu X … Keating MT (Genomics 1998) 2 3 4 22 60
  3. The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription. (PMID: 16603771) Cavellán E … Farrants AK (The Journal of biological chemistry 2006) 3 4 22 60
  4. The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci. (PMID: 15543136) Poot RA … Varga-Weisz PD (Nature cell biology 2004) 3 4 22 60
  5. Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption. (PMID: 21490707) Cornelis MC … Caporaso NE (PLoS genetics 2011) 3 45 60

Products for BAZ1B Gene

  • Addgene plasmids for BAZ1B

Sources for BAZ1B Gene

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